Incidental Mutation 'R4626:Snx10'
ID 348776
Institutional Source Beutler Lab
Gene Symbol Snx10
Ensembl Gene ENSMUSG00000038301
Gene Name sorting nexin 10
Synonyms 2410004M09Rik
MMRRC Submission 041891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4626 (G1)
Quality Score 178
Status Not validated
Chromosome 6
Chromosomal Location 51500882-51567659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51565270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 129 (D129G)
Ref Sequence ENSEMBL: ENSMUSP00000136974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049152] [ENSMUST00000114439] [ENSMUST00000137212] [ENSMUST00000149024] [ENSMUST00000179365]
AlphaFold Q9CWT3
Predicted Effect probably damaging
Transcript: ENSMUST00000049152
AA Change: D129G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044165
Gene: ENSMUSG00000038301
AA Change: D129G

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114439
AA Change: D129G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110082
Gene: ENSMUSG00000038301
AA Change: D129G

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000137212
AA Change: D129G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117914
Gene: ENSMUSG00000038301
AA Change: D129G

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149024
Predicted Effect probably damaging
Transcript: ENSMUST00000179365
AA Change: D129G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136974
Gene: ENSMUSG00000038301
AA Change: D129G

DomainStartEndE-ValueType
PX 8 124 7.99e-16 SMART
low complexity region 172 191 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show postnatal growth retardation, failure of tooth eruption, impaired skeleton development, and osteopetrorickets associated with failed osteoclast activity, high stomach pH, low calcium availability, impaired bone mineralization, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Arhgap39 A C 15: 76,621,837 (GRCm39) F255V possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Atxn1 T C 13: 45,720,575 (GRCm39) Y440C probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Ugt2b36 A C 5: 87,239,947 (GRCm39) F146C probably damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L probably damaging Het
Other mutations in Snx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Snx10 APN 6 51,565,329 (GRCm39) missense probably damaging 1.00
IGL03099:Snx10 APN 6 51,556,840 (GRCm39) missense possibly damaging 0.65
BB002:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
BB012:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
R1867:Snx10 UTSW 6 51,552,890 (GRCm39) missense probably damaging 1.00
R2100:Snx10 UTSW 6 51,565,395 (GRCm39) missense probably damaging 0.99
R4688:Snx10 UTSW 6 51,556,918 (GRCm39) missense probably damaging 1.00
R5386:Snx10 UTSW 6 51,552,952 (GRCm39) missense probably damaging 1.00
R7925:Snx10 UTSW 6 51,557,301 (GRCm39) missense probably benign 0.03
R8156:Snx10 UTSW 6 51,538,999 (GRCm39) splice site probably benign
R9460:Snx10 UTSW 6 51,565,888 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TAACATGTGATTTCATGCCGTTAGC -3'
(R):5'- TGCCTGCTAAATCAGAGCG -3'

Sequencing Primer
(F):5'- TCGGGGCGAAGTTCCCTAAAG -3'
(R):5'- TGCCTGCTAAATCAGAGCGAAAAG -3'
Posted On 2015-10-08